Canonical Allele Identifier: CA446210257
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs2149984414
MyVariant Identifiers: chr5:g.112178608C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842911C>A , CM000667.2:g.112842911C>A GRCh38
NC_000005.9:g.112178608C>A , CM000667.1:g.112178608C>A GRCh37
NC_000005.8:g.112206507C>A NCBI36
NG_008481.4:g.155391C>A , LRG_130:g.155391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7371C>A ENSP00000473355.2:p.Arg2457=
ENST00000505350.2:c.*7323C>A ENSP00000481752.1:n.*7323C>A
ENST00000507379.6:c.7263C>A ENSP00000423224.2:p.Arg2421=
ENST00000509732.6:c.7317C>A ENSP00000426541.2:p.Arg2439=
ENST00000512211.7:c.7317C>A ENSP00000423828.3:p.Arg2439=
ENST00000257430.9:c.7317C>A MANE Select ENSP00000257430.4:p.Arg2439=
ENST00000257430.8:c.7317C>A ENSP00000257430.4:p.Arg2439=
ENST00000508376.6:c.7317C>A ENSP00000427089.2:p.Arg2439=
ENST00000520401.1:c.231-13738C>A
NM_000038.5:c.7317C>A NP_000029.2:p.Arg2439=
NM_001127510.2:c.7317C>A NP_001120982.1:p.Arg2439=
NM_001127511.2:c.7263C>A NP_001120983.2:p.Arg2421=
NM_001354895.1:c.7317C>A NP_001341824.1:p.Arg2439=
NM_001354896.1:c.7371C>A NP_001341825.1:p.Arg2457=
NM_001354897.1:c.7347C>A NP_001341826.1:p.Arg2449=
NM_001354898.1:c.7242C>A NP_001341827.1:p.Arg2414=
NM_001354899.1:c.7233C>A NP_001341828.1:p.Arg2411=
NM_001354900.1:c.7194C>A NP_001341829.1:p.Arg2398=
NM_001354901.1:c.7140C>A NP_001341830.1:p.Arg2380=
NM_001354902.1:c.7044C>A NP_001341831.1:p.Arg2348=
NM_001354903.1:c.7014C>A NP_001341832.1:p.Arg2338=
NM_001354904.1:c.6939C>A NP_001341833.1:p.Arg2313=
NM_001354905.1:c.6837C>A NP_001341834.1:p.Arg2279=
NM_001354906.1:c.6468C>A NP_001341835.1:p.Arg2156=
NM_000038.6:c.7317C>A MANE Select NP_000029.2:p.Arg2439=
NM_001127510.3:c.7317C>A NP_001120982.1:p.Arg2439=
NM_001127511.3:c.7263C>A NP_001120983.2:p.Arg2421=
NM_001354895.2:c.7317C>A NP_001341824.1:p.Arg2439=
NM_001354896.2:c.7371C>A NP_001341825.1:p.Arg2457=
NM_001354897.2:c.7347C>A NP_001341826.1:p.Arg2449=
NM_001354898.2:c.7242C>A NP_001341827.1:p.Arg2414=
NM_001354899.2:c.7233C>A NP_001341828.1:p.Arg2411=
NM_001354900.2:c.7194C>A NP_001341829.1:p.Arg2398=
NM_001354901.2:c.7140C>A NP_001341830.1:p.Arg2380=
NM_001354902.2:c.7044C>A NP_001341831.1:p.Arg2348=
NM_001354903.2:c.7014C>A NP_001341832.1:p.Arg2338=
NM_001354904.2:c.6939C>A NP_001341833.1:p.Arg2313=
NM_001354905.2:c.6837C>A NP_001341834.1:p.Arg2279=
NM_001354906.2:c.6468C>A NP_001341835.1:p.Arg2156=